A standard human genome has nearly three billion DNA letters in it. Photo: supplied
A geneticist is hopeful new research will help reduce the time and money New Zealanders with rare disorders spend trying to get a diagnosis.
Getting a diagnosis can take decades for some people and usually relies on sending work to overseas laboratories.
The Genomics Aotearoa-funded research tested the genomes of 103 people in New Zealand, with about a third of participants receiving a diagnosis.
Research principal investigator Professor Stephen Robertson said it was a "diagnostic odyssey" for families to get an answer.
"Before genomic testing, the diagnostic odyssey was so much more difficult, often involving multiple misdiagnoses with resulting incorrect treatment plans, and all while symptoms are becoming more challenging," Robertson said.
"This project shows that New Zealand has the capability to assess our own people, onshore, increasing the speed to diagnose and improve lives for the families who are living with these rare disorders."
A standard human genome has nearly three billion DNA letters in it and all of them needed to be checked for misspellings as part of the research.
That meant the researchers needed high-end computers and to know what to look for, but New Zealand had lagged behind with this technology, he said.
As part of the project, staff were trained so they could undertake the work here.
The project aimed to highlight the benefits of using genomic information for New Zealand patients and their families, using New Zealand expertise and resources.
Professor Stephen Robertson. Photo: Alan Dove Photography
This month marked Rare Disorders Month, but Robertson said the research had the potential to be used to help those with cancer or other illnesses in the future.
"In health, the faster it is to a diagnosis, the better the outcomes for the patient and the cheaper it is for the system," Robertson said.
"With misdiagnosis, there are corresponding treatment plans that don't work and may cause more complications for the patient and stress on the health system."
It meant doctors could deliver medicine with more precision and accuracy, he said.
The son of a Canterbury mother - who asked to remain anonymous - was one of the participants who received a diagnosis.
They spent a year in and out of hospital after he started having terrible seizures at only three days old.
The next 13 years saw half a dozen possible diagnoses, but she said none of them fit.
She was grateful for the research that finally gave them answers.
"I had conditioned myself to never expect a diagnosis. It has been a journey of grief, and the unknown is the hardest part.
"We had exhausted all levels of testing, until we were offered to be part of this research program."
Genomics Aotearoa co-director Professor Mik Black said the country did not have the right infrastructure in place to support routine genomic testing.
"We wanted to use this project to provide a blueprint for DNA testing on the ground. The successful diagnoses highlight the importance of this approach," he said.
"We can use the pathways put in place to integrate this into New Zealand's healthcare system, saving money, increasing professional capabilities, and supporting families in difficult situations."
Canterbury Health Labs was where most of the work took place.
Senior scientist Dr Kylie Drake said it meant health dollars stayed in the New Zealand system and their staff were upskilled